[A special form of dominant spondylo-epiphyseal dysplasia (author's transl)]].
A special form of dominant spondylo-epiphyseal dysplasia has been observed in a 3 year-old boy and in his father. The roentgenological examination showed alterations involving chiefly the upper femoral extremities and the spine. This might suggest the diagnosis of spondylo-epiphyseal dysplasia congenita. However the clinical features were different. The alterations of the growth plate were also different from those found in typical forms of spondylo-epiphyseal dysplasia congenita. Large dilatations of the rough endoplasmic reticulum of chondrocytes are present in both syndromes but their content had different histochemical features. The cartilage alterations were also different from those found in the dominant form of poly-epiphyseal dysplasia as well as in pseudo-achondroplasia.
D000328:Adult; D002356:Cartilage / Q000473:pathology / Q000648:ultrastructure; D002675:Child, Preschool; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography
Une forme particulière de dysplasie spondylo-épiphysaire dominante.